Amniocentesis

Baby had too much nuchal fluid at the NT scan, 4.2mm when it should be less than 3.5mm. Genetic testing told us that it is not downs, but something else could be going on. The next most common cause is a heart defect. My next scan is next week and depending on how that goes they may recommend an amnio.

I honestly know almost nothing about amnios. I’d like to know your experience and thoughts on them. I’d also love any information you can share. I want to prepare as much as possible before my appointment so I can be ready to make a decision in advance.

Comments (9)

I had an amnio with my previous pregnancy. It did not hurt at all. I was terrified of it hurting and jumping and messing it up but it wasnt bad at all.
They told me a numbing shot would be pointless and that would hurt more than the actual needle. They were right.

I took the evening easy and took the next day off work (which was of my own decision, dr said I could have worked)
I dont necessarily have a scar from it, but the skin was weakened there so I got my first stretch mark in that spot so I can still see where it was done.

We also had a high reading at the NT scan. It was 5.4 and diagnosed as a cystic hygroma. Did they tell you it was a CH or just that it’s a high nuchal fold? Have you met with a genetic counselor or just your OB?

We met with a GC at 11 weeks (after they discovered the CH) and were told there was a 55% chance it was trisomy 13,18,21 or turners, a 10-15% chance it was a genetic deletion/duplication, 20%chance it’s a heart defect, 5% chance of another structural defect, and 10%chance there’s nothing wrong and our baby’s lymph system was just taking a while to get working correctly. But again we were diagnosed with a full CH, not just an increased nuchal fold. I believe just the increased NT has a 20% chance of nothing being wrong.

All the blood tests you can take are just screenings. They give you a probability but not a definite answer. The amnio is the only prenatal test (besides CVS) that can rule out genetic disorders. Our MFM told us that the risk for an amnio is 1/800, so the risk was worth it for us to have a definite diagnosis. You’ll have to ask yourself if the risk is worth it to you, and what you’d do with the information when you get it. If baby came back with a legal genetic disorder would you terminate? Or be able to start the grieving process knowing what was in the future? Can you go through your pregnancy without needing all the information and just take what comes when it does? It’s a very personal decision.

The cystic hygroma board is super helpful with information and other mommas stories. I’d highly recommend reading through some of those stories.

BTW: the NT scan is a relatively new test without a bunch of data. There are a TON of false positives with it whose babies go on to be perfectly normal and healthy. That 10/20% stat I think should be much higher.

We also had a high reading at the NT scan. It was 5.4 and diagnosed as a cyst...

Last edited
09/07/2018

We also had a high reading at the NT scan. It was 5.4 and diagnosed as a cystic hygroma. Did they tell you it was a CH or just that it’s a high nuchal fold? Have you met with a genetic counselor or just your OB?

We met with a GC at 11 weeks (after they discovered the CH) and were told there was a 55% chance it was trisomy 13,18,21 or turners, a 10-15% chance it was a genetic deletion/duplication, 20%chance it’s a heart defect, 5% chance of another structural defect, and 10%chance there’s nothing wrong and our baby’s lymph system was just taking a while to get working correctly. But again we were diagnosed with a full CH, not just an increased nuchal fold. I believe just the increased NT has a 20% chance of nothing being wrong.

All the blood tests you can take are just screenings. They give you a probability but not a definite answer. The amnio is the only prenatal test (besides CVS) that can rule out genetic disorders. Our MFM told us that the risk for an amnio is 1/800, so the risk was worth it for us to have a definite diagnosis. You’ll have to ask yourself if the risk is worth it to you, and what you’d do with the information when you get it. If baby came back with a legal genetic disorder would you terminate? Or be able to start the grieving process knowing what was in the future? Can you go through your pregnancy without needing all the information and just take what comes when it does? It’s a very personal decision.

The cystic hygroma board is super helpful with information and other mommas stories. I’d highly recommend reading through some of those stories.

BTW: the NT scan is a relatively new test without a bunch of data. There are a TON of false positives with it whose babies go on to be perfectly normal and healthy. That 10/20% stat I think should be much higher.

Wow, thank you so much for the info!

High nuchal fold, nothing about CH. The info I have is from discussing with a genetic counselor. We did the Counsyl genetic test, I honestly forget what it all tests for, but it came negative for everything. They said the test is highly accurate and said the bang has a 1/1000 chance of downs, but they didn’t go through statistics of anything else yet.

We would not terminate, it would be knowledge to help us prepare in whatever way possible for once our son does get here.

I have decided that for me personally I won't do an amnio. There is a 1 in 200 (some sources say up to a 1 in 400) chance of it causing a miscarriage, and to me that risk is too high, especially if I wouldn't abort regardless of the findings. That said, the risk is still quite low and I understand completely why others make the decision to do an amnio.

Good luck with everything, and if you do the amnio I wish you good results and a safe procedure. 💕

I had an amnio on Wednesday. It was pretty quick. The put the needle in very quickly, it feel like a slight cramping feeling which was still sore like a sore muscle. It's still a little sore today but it wasn't bad. Like I did an intense ab workout. I didn't have any fluid leak or anything....

Wow, thank you so much for the info!
High nuchal fold, nothing about CH. The ...

Posted
09/07/2018

Wow, thank you so much for the info!

High nuchal fold, nothing about CH. The info I have is from discussing with a genetic counselor. We did the Counsyl genetic test, I honestly forget what it all tests for, but it came negative for everything. They said the test is highly accurate and said the bang has a 1/1000 chance of downs, but they didn’t go through statistics of anything else yet.

We would not terminate, it would be knowledge to help us prepare in whatever way possible for once our son does get here.

I’d just go with your gut on the amnio. Its the only way to know for sure if there was a genetic reason for the high NT, besides waiting until after baby is born and running tests on baby’s blood. Counsyl is highly accurate but not completely accurate (as with all blood tests). Amnio is. Ask your Dr what the stats for miscarriage are (mine said one in 800), how many they do in a day/week, and go from there. Write down every question you can think of (even silly ones) because you can forget them while you’re sitting in that appt. You don’t have to make a decision on the spot and can still think it over.

We did the CVS which has a higher rate of miscarriage at 1/500, but the knowledge and peace of mind we received back was completely worth the risk for us. We wouldn’t have terminated either but needed the knowledge because we have older children to think about as well.

But again it’s a completely personal decision and there is no right or wrong answer. Best of luck to you!

I’d just go with your gut on the amnio. Its the only way to know for sure i...

Posted
09/07/2018

I’d just go with your gut on the amnio. Its the only way to know for sure if there was a genetic reason for the high NT, besides waiting until after baby is born and running tests on baby’s blood. Counsyl is highly accurate but not completely accurate (as with all blood tests). Amnio is. Ask your Dr what the stats for miscarriage are (mine said one in 800), how many they do in a day/week, and go from there. Write down every question you can think of (even silly ones) because you can forget them while you’re sitting in that appt. You don’t have to make a decision on the spot and can still think it over.

We did the CVS which has a higher rate of miscarriage at 1/500, but the knowledge and peace of mind we received back was completely worth the risk for us. We wouldn’t have terminated either but needed the knowledge because we have older children to think about as well.

But again it’s a completely personal decision and there is no right or wrong answer. Best of luck to you!

Do you have any suggested questions to ask? I try to think of them in advance but struggle until I come home from my appointments, then I have a million after the fact.

Do you have any suggested questions to ask? I try to think of them in advance...

Posted
09/07/2018

Do you have any suggested questions to ask? I try to think of them in advance but struggle until I come home from my appointments, then I have a million after the fact.

Hmmmm, this is what I’d ask:

-Is it a cystic hygroma or increased nuchal fold? What is the difference? If cystic hygroma, is it separated?
-Has it grown/shrunk any since the last appt? What is the measurement for error? (There’s a better word for this but can’t think of it right now)
-Will you be seeing an MFM?
-What are their main concerns with the increased NT?
-What could be the cause? (They should give you some stats like they gave me. They prob won’t be exactly like mine but should tell you similar conditions)
-When can they do a fetal echo to look at the heart?
-Are there any other ultrasound marker or findings to watch? Are you getting an in depth level 2 or basic ultrasound?
-can you and your husband be screened for genetic conditions?
-should/can you screen for single point mutations in addition to the testing you’ve already done?
-are there any limitations on your pregancy as far as your activity goes?

Those are all the questions I’ve asked before. You’ll come up with more as you go along in the process. A GC is usually really good about answering anything and getting back with you on the phone to answer anything you forgot.

Hi there. Like u my blood work came back low risk for genetic disorders but my baby’s NT test came back as 3.2. I know this is not high by my doctor says anything over 3.0 is high. So I did the CVS test as u needed to wait until at least 16 weeks for the amnio. Idk what the amnio is like but this test no it didn’t hurt but yes it was extremely uncomfortable. I would rather never have one again, that’s for sure. The risk of miscarriage for a CVS is 1/400 and amnio is 1/1000. I have received the results and they have all come back normal. No genetic issues found so far. I am still waiting for the microarray test but three doctors told me not to worry since all the other tests came back as nothing. The genetic counselor and MFM both said it’s probably just a variation of normal for her, meaning nothing genetic but there still can be something wrong with her heart. I am having a more detailed anatomy next Friday n a fetal echo beginning of October. Honestly idk what I would if done if it came back that she had a genetic disorder. But I wanted to know either way cause if she did I would rather find out now and not after birth

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